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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1435753387
Gene: WFS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.6269397_6269399delinsACT , CM000666.2:g.6269397_6269399delinsACT
GRCh38
NC_000004.11:g.6271124_6271126delinsACT , CM000666.1:g.6271124_6271126delinsACT
GRCh37
NC_000004.10:g.6322025_6322027delinsACT
NCBI36
NG_011700.1:g.4548_4550delinsACT
Transcript Alleles
HGVS
Amino-acid change
XM_017008586.1:c.4+7758_4+7760delinsACT
XP_016864075.1:n.4+7758_4+7760delinsACT
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